Associated Papers
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
39286500 (PubMed )
Supplement: mmc1.pdf
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Franklin JP et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Up-regulation of voltage-gated sodium channels by peptides mimicking S4-S5 linkers reveals a variation of the ligand-receptor mechanism.
Malak OA et al.
Scientific Reports, 2020
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.
Taminato T et al.
Journal of Neuromuscular Diseases, 2020
Structure of the human voltage-gated sodium channel Nav1.4 in complex with β1.
Pan X et al.
Science (new York, N.y.), 2018
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.
Desaphy JF et al.
Neurology, 2016
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.
Lindsay HA et al.
Genetics, 2008
A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
Bouhours M et al.
The Journal of Physiology, 2005
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